ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)

dbSNP: rs1581909859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001274856 SCV001611196 likely benign Autosomal recessive polycystic kidney disease 2023-07-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274856 SCV001459392 uncertain significance Autosomal recessive polycystic kidney disease 2019-02-14 no assertion criteria provided clinical testing

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